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Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-8. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8.

BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.

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  • 1Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA.


Increased HbF levels or F-cell (HbF containing erythrocyte) numbers can ameliorate the disease severity of beta-thalassemia major and sickle cell anemia. Recent genome-wide association studies reported that single nucleotide polymorphisms (SNPs) in BCL11A gene on chromosome 2p16.1 were correlated with F-cells among healthy northern Europeans, and HbF among Sardinians with beta-thalassemias. In this study, we showed that SNPs in BCL11A were associated with F-cell numbers in Chinese with beta-thalassemia trait, and with HbF levels in Thais with either beta-thalassemia or HbE trait and in African Americans with sickle cell anemia. Taken together, the data suggest that the functional motifs responsible for modulating F-cells and HbF levels reside within a 3 kb region in the second intron of BCL11A.

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